A5091373044- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Blood groups and transfusion
- Erythrocyte Function and Pathophysiology
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Advanced biosensing and bioanalysis techniques
- Kruppel-like factors research
- Biosensors and Analytical Detection
- Folate and B Vitamins Research
- Genetic Associations and Epidemiology
- Cancer-related gene regulation
- Statistical Methods in Epidemiology
- Mosquito-borne diseases and control
- Prenatal Screening and Diagnostics
- Oral and gingival health research
- SARS-CoV-2 detection and testing
Prince of Songkla University
2019-2025
Khon Kaen University
2015-2017
α-thalassemia is an inherited blood disorder that most frequently found in Southeast Asian populations. In Thailand, molecular characterization can diagnose patients with α-thalassemia; however, several atypical are also observed routine analyses. Here, we characterized mutations among 137 Hemoglobin H (Hb H) disease and three fetuses of Hb Bart's hydrops, a fatal clinical phenotype α-thalassemia. Specifically, performed multiplex ligation-dependent probe amplification (MLPA) followed by...
β-thalassemia (thal), hemoglobin (Hb) E, and high Hb F determinants, which are caused by mutations in the β-globin gene cluster, common genetic disorders Thailand Southeast Asia. Prenatal diagnosis is essential for couples at risk to identify severe forms, including homozygous β-thal E/β-thal. Conventional methods, reverse dot-blot hybridization gap-polymerase chain reaction (PCR) genotyping of point large deletion mutations, require post-PCR steps, time-consuming costly. This study aimed...
Hemoglobin (Hb) F, or fetal hemoglobin, is the predominant Hb in fetuses and converted to adult hemoglobin (Hb A) at age of 2 years. However, high F levels adults are typically present conditions such as β-thalassemia disease determinants including large deletional β-globin gene clusters, hereditary persistence (HPFH). The accurate detection these crucial for effective management genetic counseling. Several molecular techniques have been used identify but require advanced instrumentation,...
<title>Abstract</title> Formulas based on red blood cell indices have been used to differentiate between iron deficiency anemia (IDA) and thalassemia (Thal). However, such formulas exhibit varying efficiencies. In this study, we aimed develop a tool for discriminating IDA Thal by using the random forest (RF) gradient boosting (GB) algorithms. Complete count data from 1,143 patients with low mean corpuscular volume were collected (382 IDA, 635 Thal, 126 Thal). The randomly divided into...
We characterized here for the first time deletional HbH disease caused by a large novel α0-thalassemia deletion in 26-year-old Burmese pregnant woman. Capillary electrophoresis (CE) electropherogram revealed HbA2ABart's H, whereas, single-tube multiplex real-time PCR with EvaGreen and high-resolution melting (HRM) analysis diagnosis of three common --SEA, --THAI, --CR deletions showed negative result. Thus, ligation-dependent probe amplification (MLPA) was performed. The α-globin gene...
Abstract Data on hemoglobin (Hb) variants in southern Thailand are lacking. This study aimed to reassess the frequency of Hb and clinical aspects compound heterozygous variant with other hemoglobinopathies. We enrolled 13,391 participants from ten provinces during 2015–2022. analysis was performed using capillary electrophoresis, mutations HBA HBB genes were identified PCR or DNA sequencing. 337 (2.5%) unrelated subjects. Nine β-chain variants, namely Malay (76.9%), C (10.1%), D-Punjab...
Hb H diseases with the clinical features of thalassemia are found in many parts world, including Southeast Asia and southern China. There limitations molecular data from population Thailand, which includes multiple ethnic groups. Here, we characterized basis disease among a large cohort this region. A total 479 unrelated Thai patients were studied. Mutations α-globin gene by conventional gap-PCR rare genotypes identified MLPA analysis direct DNA sequencing. The characterization showed five...
To validate a novel rapid molecular testing method for differentiation of homozygous hemoglobin (Hb)E and HbE/β 0-thalassemia genotypes using multiplex melt curve combined with high-resolution (HRM) analysis in single test tube.All 10 contained (β N/β N; n = 95), 3.5-kb; 71), 45-kb; 28), E; 10), E/β 6), 4), 41/42; 17; 9), IVSI#1; 76) were recruited validation. A proposed strategy β 0-thalassemia/HbE disease Hb E specimens HbE greater than 80% variable HbF levels was demonstrated.In the...
Single nucleotide polymorphisms are informative for haplotype analysis associated with genetic background and clinical linkage studies of β-thalassemia mutations. Hence, the aim this study was to investigate five (codon 2 (C/T), IVS II-16 (C/G), II-74 (G/T), II-81 (C/T) Hinf I (T/A) polymorphism) on β-globin gene, related eight common mutations in Thailand, including NT-28 (A > G), codon 17 T), 19 HbE (G A), I-1 C), I-5 41/42 (-TTCT) II-654 (C T). The strongest LD (100%) between mutation...
The aim of this study was to determine the molecular spectrum β-thalassemia (β-thal) mutations in eastern Thailand. We identified β-thal using allele specific-polymerase chain reaction (ASPCR) and direct DNA sequencing. found 18 different a total 191 unrelated subjects. Six common comprised 86.91% all mutations, including codons 41/42 (-TTCT) (HBB: c.126_129delCTTT) (35.60%), codon 17 (A>T) c.52A>T) (18.85%), -28 (A>G) c.-78A>G) (15.71%), IVS-II-654 (C>T) c.316-197C>T) (6.28%), IVS-I-1 (G>T)...
We report the molecular and hematological identifications of a Hb A2 variant [coinheritance A2-Melbourne (HBD: c.130G>A) E (HBB: c.79G>A)] found for first time in Lao People's Democratic Republic (PDR). The subject was 29-year-old pregnant Laotian woman who foreign worker Thailand diagnosed with thalassemia hemoglobinopathies. Capillary electrophoresis (CE) demonstrated 1.6% A2, minor unknown peak at initial Z1 zone (1.7%). Identification abnormal hemoglobin (Hb) using direct DNA sequencing...
Background β 0 -thalassemia deletion removing 5´ -globin promoter usually presents phenotype with high hemoglobin (Hb) A 2 and Hb F levels. We report the molecular characteristics phenotype-genotype correlation in a large cohort of 3.4 kb deletion. Methods total 148 subjects, including 127 heterozygotes, 20 E- patients, double heterozygote α gene triplication, were recruited. DNA analysis performed to identify thalassemia mutations four single nucleotide polymorphisms (SNPs) base pair...
Single nucleotide polymorphisms (SNPs) in several genetic modifying factors have been related to Hb F levels, including Gγ XmnI polymorphism, B-cell lymphoma/leukemia 11 A (BCL11A), HBS1L-MYB intergenic polymorphism (HMIP) and a mutation the Krüppel-like factor 1 (KLF1). This study aimed determine whether variability of these affects levels heterozygous β-thalassemia (β-thal) 3.5 kb deletion (NC_000011.10: g.5224302-5227791del13490bp). total 111 β-thal carriers with ranging from 0.9 18.4%...
Abstract β‐thalassemia (β‐thal) (3.5 kb deletion or NC_000011.10:g.5224302‐5227791del3490bp) is a common mutation in southern Thailand. This study aimed to determine genetic diversity subjects with β‐thal deletion) alleles and ascertain the origin of this using haplotype phylogenetic analysis. The was carried out on members Thai population, including 45 normal individuals, 116 heterozygous one homozygous deletion). 5′‐haplotype β‐globin gene cluster examined newly developed reverse dot blot...
No potential conflicts of interest are reported by the authors. The data that support findings this study available from corresponding author upon reasonable request.
β-thalassemia is an inherited disorder that reported worldwide. Two common β0-thalassemia mutations (3.5 kb and 45 deletions) are prevalent in Southeast Asia Thailand. Identification of these defects essential to population screening prenatal diagnosis. We aimed develop colorimetric LAMP based on a phenol red indicator validate it various thalassemia genotypes.Colorimetric assays for detecting 3.5- 45-kb deletions were developed validated 254 routine clinical samples. The results the could...
Beta-thalassemia is an inherited disorder prevalent in Thailand and Southeast Asia. Several molecular techniques for identifying β-thalassemia mutations have been reported. Next-generation sequencing (NGS) a type of effective testing with high throughput accuracy. Hence, this study aims to evaluate novel barcode-tagged NGS approach based on short-read assay. A total 258 samples 54 different genotypes related 32 were gathered evaluated. library was constructed the BTSeq
The α0-thalassemia (α0-thal) [– –SEA (Southeast Asian) deletion] is highly prevalent in Southeast Asia and South China. linkage between the single nucleotide polymorphism (SNP) rs77308790 – deletion was reported Chinese population. This study genotype of SNP using high resolution melting (HRM) curve analysis Thai population application for double-checking diagnosis Hb Bart’s (γ4) hydrops fetalis syndrome. A total 202 samples, including α0-thal carriers (– –SEA/αα) (n = 99) wild-type 103),...